Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8

Evandro Ferrada (Corresponding author), Tabea Wiedmer, Wen An Wang, Fabian Frommelt, Barbara Steurer, Christoph Klimek, Sabrina Lindinger, Tanja Osthushenrich, Andrea Garofoli, Silvia Brocchetti, Samuel Bradberry, Jiahui Huang, Aidan MacNamara, Lia Scarabottolo, Gerhard F. Ecker, Anders Malarstig, Giulio Superti-Furga

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